Varaico: Literature-Extracted Genetic Variants

BCR

1,586 papers

RefSeq Summary

A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this ...

Pfam Domains

Bcr-Abl_Oligoaa 3–75UCSCBcr-Abl oncoprotein oligomerisation domain

RhoGEFaa 502–689UCSCRhoGEF domain

PH_19aa 697–823UCSCPH domain

C2aa 911–1018UCSCC2 domain

RhoGAPaa 1068–1216UCSCRhoGAP domain

Gene Aliases

HGNC Name

BCR activator of RhoGEF and GTPase

HGNC Previous Symbols

D22S11; BCR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004327.4

p.K39N

c.117G>T

Surrounding Variants

1 paper

NM_004327.4

p.K39E

c.115A>G

1 paper

NM_004327.4

p.K39*

c.115A>T

1 paper

NM_004327.4

p.A40G

c.119C>G

1 paper

NM_004327.4

p.C38Y

c.113G>A

1 paper

NM_004327.4

p.C38R

c.112T>C

1 paper

NM_004327.4

p.C38G

c.112T>G

1 paper

NM_004327.4

p.C38delFs

c.112delT

1 paper

NM_004327.4

p.R37H

c.110G>A

1 paper

NM_004327.4

p.R37insFs

c.110_111insC

1 paper

NM_004327.4

p.R37insFs

c.110dupG

1 paper

NM_004327.4

p.R37_C38del1

c.110_112delGCT

1 paper

NM_004327.4

p.I42T

c.125T>C